MCID: KLB005
MIFTS: 27

Kleeblattschaedel

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Kleeblattschaedel

MalaCards integrated aliases for Kleeblattschaedel:

Name: Kleeblattschaedel 57
Isolated Cloverleaf Skull Syndrome 53 59
Kleeblattschaedel Syndrome 53 73
Cloverleaf Skull 57 29
Kleeblattschaedel Deformity Syndrome 53
Cloverleaf Skull Syndrome 53
Kleeblattschadel 57

Characteristics:

Orphanet epidemiological data:

59
isolated cloverleaf skull syndrome
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal dominant
all cases have been sporadic


HPO:

32
kleeblattschaedel:
Inheritance autosomal dominant inheritance sporadic


Classifications:



Summaries for Kleeblattschaedel

OMIM : 57 Cloverleaf skull, or Kleeblattschaedel, consists of a trilobular skull with craniosynostosis. The condition shows pathogenetic variability and etiologic heterogeneity. The cause of isolated cloverleaf skull is unknown (Cohen, 2009). Cohen (1975) pointed out that Kleeblattschaedel is a component of many syndromes, e.g., it is found in some cases of Crouzon syndrome (123500), Pfeiffer syndrome (101600), and Carpenter syndrome (201000). Cohen (2009) listed 12 monogenic disorders with cloverleaf skull as a feature, including type II thanatophoric dysplasia (187601), which accounts for 40% of all cloverleaf skull syndromes. Cohen (2009) published photographs of cloverleaf skull in various syndromes. (148800)

MalaCards based summary : Kleeblattschaedel, also known as isolated cloverleaf skull syndrome, is related to thanatophoric dysplasia, type ii and thanatophoric dysplasia, type i. An important gene associated with Kleeblattschaedel is ERF (ETS2 Repressor Factor). Affiliated tissues include bone, and related phenotypes are malar flattening and high forehead

Related Diseases for Kleeblattschaedel

Diseases related to Kleeblattschaedel via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type ii 11.9
2 thanatophoric dysplasia, type i 9.9
3 hydrocephalus 9.9
4 choroiditis 9.9

Symptoms & Phenotypes for Kleeblattschaedel

Symptoms via clinical synopsis from OMIM:

57
Neuro:
hydrocephalus

Limbs:
elbow ankylosis

Skull:
craniosynostosis
trilobular skull
premature coronal and lambdoidal suture closure

Eyes:
exophthalmos
corneal ulcerations


Clinical features from OMIM:

148800

Human phenotypes related to Kleeblattschaedel:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
3 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
4 convex nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000444
5 proptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000520
6 craniosynostosis 59 32 frequent (33%) Frequent (79-30%) HP:0001363
7 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
8 skeletal dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0002652
9 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
10 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
11 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
12 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
13 hydrocephalus 32 HP:0000238
14 recurrent corneal erosions 32 HP:0000495
15 cloverleaf skull 32 HP:0002676
16 elbow ankylosis 32 HP:0003070

Drugs & Therapeutics for Kleeblattschaedel

Search Clinical Trials , NIH Clinical Center for Kleeblattschaedel

Genetic Tests for Kleeblattschaedel

Genetic tests related to Kleeblattschaedel:

# Genetic test Affiliating Genes
1 Cloverleaf Skull 29

Anatomical Context for Kleeblattschaedel

MalaCards organs/tissues related to Kleeblattschaedel:

41
Bone

Publications for Kleeblattschaedel

Articles related to Kleeblattschaedel:

(show all 27)
# Title Authors Year
1
Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: Early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel). ( 24517215 )
2014
2
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. ( 24075385 )
2013
3
Spring-mediated cranioplasty in patients with multiple-suture synostosis and cloverleaf skull deformity. ( 22421829 )
2012
4
Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis. ( 19940464 )
2010
5
A cloverleaf skull associated with Crouzon syndrome. ( 16492963 )
2006
6
Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature. ( 15565658 )
2004
7
[Imaging of cloverleaf skull]. ( 11223631 )
2001
8
Cloverleaf skull anomaly and de novo trisomy 4p. ( 10353793 )
1999
9
Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association. ( 9842995 )
1998
10
Cloverleaf skull--when should one operate? ( 9259603 )
1997
11
Prenatal diagnosis of cloverleaf skull in the subtype 2 Pfeiffer syndrome. ( 9018425 )
1997
12
Patient with craniosynostosis and marfanoid phenotype (Shprintzen-Goldberg syndrome) and cloverleaf skull. ( 7573131 )
1995
13
Perinatal pathology casebook. Thanatophoric dysplasia with cloverleaf skull. ( 8515313 )
1993
14
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. ( 1308351 )
1992
15
Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings. ( 1481860 )
1992
16
Crouzon twins with cloverleaf skull malformations. ( 1814484 )
1991
17
Thanatophoric dysplasia and cloverleaf skull. ( 3130852 )
1987
18
Considerations about the cloverleaf skull. ( 3429614 )
1987
19
Sonographic diagnosis of cloverleaf skull and thanatophoric dysplasia in the second trimester. ( 3091649 )
1986
20
Cloverleaf skull associated with Pfeiffer syndrome: pathology and management. ( 3792393 )
1986
21
Thanatophoric dwarfism with the cloverleaf skull: a specific antenatal sonographic diagnosis. ( 3884837 )
1985
22
Cloverleaf skull syndrome. ( 6510049 )
1984
23
Early antenatal sonographic recognition of thanatophoric dysplasia with cloverleaf skull deformity. ( 6332495 )
1984
24
Thanatophoric dysplasia with cloverleaf skull. ( 6351595 )
1983
25
Antenatal sonographic findings of thanatophoric dysplasia with cloverleaf skull. ( 6881234 )
1983
26
The cloverleaf skull anomaly: an anatomic and histologic study of two specimens. ( 6951663 )
1982
27
Thanatophoric dysplasia with cloverleaf-skull. Case report and review of the literature. ( 7182189 )
1982

Variations for Kleeblattschaedel

Expression for Kleeblattschaedel

Search GEO for disease gene expression data for Kleeblattschaedel.

Pathways for Kleeblattschaedel

GO Terms for Kleeblattschaedel

Sources for Kleeblattschaedel

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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54 NINDS
55 Novoseek
57 OMIM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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